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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Short Communication SEPT5 (septin 5) Jean-Loup Huret Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH) Published in Atlas Database: April 2000 Online updated version : http://AtlasGeneticsOncology.org/Genes/hCDCRel-1ID220.html DOI: 10.4267/2042/37612 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2000 Atlas of Genetics and Cytogenetics in Oncology and Haematology implicated in the cytoskeleton organization; nucleotide binding proteins; hCDCRel-1 is closely related to AF17q25/MSF, also found involved in fusion protein with MLL in leukemia. Identity Other names: hCDCRel-1 (human cell division cycle regulation 1); PNUTL1 (peanut (drosophila)- like 1); CDCREL; AF22 (ALL1 fused gene from chromosome 22) HGNC (Hugo): SEPT5 Location: 22q11.2 Implicated in t(11;22)(q23;q11) acute non lymphocytic leukemia (ANLL) --> MLL - hCDCRel-1 Disease M4, M2, and M1 ANLL. Hybrid/Mutated gene 5' MLL - 3' hCDCRel, with fusion of MLL exon 7 to hCDCRel exon 3. Abnormal protein NH2 - AT hook and DNA methyltransferase from MLL fused to hCDCREL-1 - COOH. DNA/RNA Description The gene spans 13 kb; 13 exons; one large intron (3.7kb) between exons 2 and 3. Transcription Two major splicings in 5' (exons 1 and 2 versus exon 3; 2032 bp mRNA; coding sequence: 1109 bp; the gene is just 5'of GPIb beta (platelet membrane glycoprotein Ib beta precursor), and GPIb beta is co-expressed with hCDCRel-1; this is due to a non-consensus polyadenylation signal in 3' of hCDCRel-1. References McKie JM, Sutherland HF, Harvey E, Kim UJ, Scambler PJ. A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11. Hum Genet. 1997 Nov;101(1):6-12 Protein Zieger B, Hashimoto Y, Ware J. Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence. J Clin Invest. 1997 Feb 1;99(3):520-5 Description 369 amino acids; GTPase activity. Expression Caltagarone J, Rhodes J, Honer WG, Bowser R. Localization of a novel septin protein, hCDCrel-1, in neurons of human brain. Neuroreport. 1998 Aug 24;9(12):2907-12 High level expression in brain, heart, platelets; low level expression in some other tissues. Localisation Yagi M, Zieger B, Roth GJ, Ware J. Structure and expression of the human septin gene HCDCREL-1. Gene. 1998 Jun 8;212(2):229-36 Cytoplasm. Function This article should be referenced as such: See below; may have a role in the synaptic function of neurones in the brain. Huret JL. SEPT5 (septin 5). Atlas Genet Cytogenet Oncol Haematol. 2000; 4(2):63. Homology Belong to the septin family: filament forming proteins Atlas Genet Cytogenet Oncol Haematol. 2000; 4(2) 63